Association of CTLA4 (Cytotoxic T-Lymphocyte Associated Antigen-4) Gene Single Nucleotide Polymorphism with Vasculitis

Background: Vasculitis is a autoimmune disorders represented in heterogenous groups and it is characterized by inflammation and destruction of blood vessels. This leads to multi-organ involvement and substantial morbidity. Genetic susceptibility plays a very important key role in the pathogenesis of vasculitis disorders. Cytotoxic T-lymphocyte associated antigen-4 (CTLA4) has emerged as a critical immune checkpoint molecule regulating T-cell activation and maintaining peripheral immune tolerance. Aim: To evaluate the association between CTLA4 gene single nucleotide polymorphism (SNP) rs3087243 (CT60 G>A) and susceptibility to vasculitis in a South Indian population. Materials and Methods: This case-control study was conducted among patients who were diagnosed with systemic vasculitis and healthy controls. Peripheral blood samples were collected and genomic DNA was isolated. Genotyping of CTLA4 polymorphism rs3087243 was performed using polymerase chain reaction–based techniques. Allelic and genotypic frequencies were compared between cases and controls using appropriate statistical tests. Results: The distribution of CTLA4 polymorphism differed between vasculitis patients and healthy individuals, suggesting a possible association between CTLA4 genetic variation and susceptibility to vasculitic disorders. Conclusion: The CTLA4 rs3087243 polymorphism may contribute to genetic predisposition to vasculitis in the studied population. Further studies with larger sample sizes and multi-center cohorts are necessary to confirm these findings and clarify the role of CTLA4 in the immunopathogenesis of vasculitis.